ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease, type I by Illumina Laboratory Services, Illumina

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.*577T>C rs7538 0.20549
NM_006158.5(NEFL):c.*1107C>T rs3761 0.10372
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_006158.5(NEFL):c.*1643G>A rs8077 0.08320
NM_000304.4(PMP22):c.*828G>A rs13027 0.06019
NM_000304.4(PMP22):c.*228G>A rs1804193 0.05698
NM_006158.5(NEFL):c.*378A>G rs17052849 0.04877
NM_000304.4(PMP22):c.*1111G>T rs7415 0.04701
NM_006158.5(NEFL):c.*1100C>T rs79736124 0.03959
NM_001136472.2(LITAF):c.-6+681dup rs398100090 0.02035
NM_000304.4(PMP22):c.*1120T>C rs11654383 0.01749
NM_006158.5(NEFL):c.*883G>C rs76387248 0.01696
NM_006158.5(NEFL):c.*1155T>G rs116881703 0.00773
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_006158.5(NEFL):c.*485A>G rs145103399 0.00252
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_001136472.2(LITAF):c.*68G>A rs189101115 0.00186
NM_000304.4(PMP22):c.*26T>C rs200563670 0.00006
NM_000304.4(PMP22):c.*105CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*525CT[1] rs71699667
NM_000399.5(EGR2):c.*1080G>A rs886047085
NM_006158.5(NEFL):c.*1198G>C rs4644268
NM_006158.5(NEFL):c.*407_*408del rs144391096

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